Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal cellular physiology (HP:0011017)

..Starting node
..Increased sensitivity to ionizing radiation (HP:0011133)

Term ID:

11133

Name:

Increased sensitivity to ionizing radiation

Synonym:

Increased sensitivity to ionising radiation

Definition:

An abnormally increased sensitivity to the effects of ionizing radiation.

Comments:

Reference:

HP:0011133

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of B cell physiology (HP:0005372)

Abnormality of chromosome condensation (HP:0011019)

Abnormality of chromosome segregation (HP:0002916)

Abnormality of chromosome stability (HP:0003220)

Abnormality of DNA repair (HP:0003254)

Abnormality of lysosomal metabolism (HP:0004356)

Abnormality of T cell physiology (HP:0011840)

Abnormality of the cell cycle (HP:0011018)

Abnormality of the mitochondrion (HP:0012103)

Increased cellular sensitivity to UV light (HP:0003224)

Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	54
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	184
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.	532
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	220
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	9
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	162
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome		7
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	87
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	47
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	22
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	124
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040281 - Very frequent	238
HP:0011133	HP:0011133	Increased sensitivity to ionizing radiation	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040281 - Very frequent

Genes (14) :AKT1 BAP1 MRE11 NF2 NSMCE3 PDGFB PIK3CA RNF168 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (4) :ORPHA:2495 OMIM:604391 OMIM:617241 OMIM:611943

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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